severe intellectual disability-progressive spastic diplegia syndrome


Alzheimer disease 17

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


microcephalic primordial dwarfism due to ZNF335 deficiency


dysmorphism-conductive hearing loss-heart defect syndrome


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


microphthalmia, isolated, with coloboma 9


progressive retinal dystrophy due to retinol transport defect


mitochondrial DNA deletion syndrome with progressive myopathy


mitochondrial complex III deficiency nuclear type 2


mitochondrial complex III deficiency nuclear type 3


mitochondrial complex III deficiency nuclear type 4


mitochondrial complex III deficiency nuclear type 5


short ulna-dysmorphism-hypotonia-intellectual disability syndrome


syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11


Charcot-Marie-Tooth disease dominant intermediate F


severe combined immunodeficiency due to CARD11 deficiency


cryptosporidiosis-chronic cholangitis-liver disease syndrome


agammaglobulinemia 7, autosomal recessive


hydrocephalus, nonsyndromic, autosomal recessive 2


corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


mitochondrial complex V (ATP synthase) deficiency nuclear type 4B


severe congenital hypochromic anemia with ringed sideroblasts


CIDEC-related familial partial lipodystrophy


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12


hypogonadotropic hypogonadism 17 with or without anosmia


hypogonadotropic hypogonadism 18 with or without anosmia


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4


hypogonadotropic hypogonadism 19 with or without anosmia


hypogonadotropic hypogonadism 20 with or without anosmia


hypogonadotropic hypogonadism 21 with or without anosmia


hypomyelination with brain stem and spinal cord involvement and leg spasticity


complex cortical dysplasia with other brain malformations 2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13


autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures


hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


multiple mitochondrial dysfunctions syndrome 3


developmental and epileptic encephalopathy, 16


precocious puberty, central, 2

Autosomal dominant inheritance with maternal imprinting


Ehlers-Danlos syndrome, spondylodysplastic type, 2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


autosomal recessive limb-girdle muscular dystrophy type 2T


autosomal recessive limb-girdle muscular dystrophy type R18


fetal akinesia-cerebral and retinal hemorrhage syndrome


developmental and epileptic encephalopathy 94


pulmonary hypertension, neonatal, susceptibility to


Charcot-Marie-Tooth disease recessive intermediate C


autosomal recessive spinocerebellar ataxia 14


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency


multiple congenital anomalies-hypotonia-seizures syndrome 3


severe combined immunodeficiency due to CORO1A deficiency


dyschromatosis universalis hereditaria 3


complex cortical dysplasia with other brain malformations 3


complex cortical dysplasia with other brain malformations 4


microcephaly 11, primary, autosomal recessive


mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive


hypotonia, infantile, with psychomotor retardation and characteristic facies


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3


epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency


autosomal recessive nonsyndromic hearing loss 88


retinitis pigmentosa with or without situs inversus


combined oxidative phosphorylation defect type 17


catecholaminergic polymorphic ventricular tachycardia 5


mitochondrial complex III deficiency nuclear type 6


combined immunodeficiency due to MALT1 deficiency


developmental and epileptic encephalopathy, 17


aldosterone-producing adenoma with seizures and neurological abnormalities


developmental and epileptic encephalopathy, 18


basal ganglia calcification, idiopathic, 5


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


short-rib thoracic dysplasia 8 with or without polydactyly


telangiectasia, hereditary hemorrhagic, type 5


severe dermatitis-multiple allergies-metabolic wasting syndrome


alacrima, achalasia, and intellectual disability syndrome


myopathy due to myoadenylate deaminase deficiency


developmental delay with autism spectrum disorder and gait instability


Ehlers-Danlos syndrome, musculocontractural type 2


autosomal recessive nonsyndromic hearing loss 76


severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


testicular anomalies with or without congenital heart disease


hereditary sensory and autonomic neuropathy type 7


familial episodic pain syndrome with predominantly lower limb involvement


autism spectrum disorder - epilepsy - arthrogryposis syndrome


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


neuronopathy, distal hereditary motor, type 2D


growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome


severe combined immunodeficiency due to IKK2 deficiency


combined immunodeficiency due to OX40 deficiency


combined oxidative phosphorylation deficiency 19


STT3A-congenital disorder of glycosylation


STT3B-congenital disorder of glycosylation


palmoplantar keratoderma, Nagashima type


microcephaly-thin corpus callosum-intellectual disability syndrome


combined immunodeficiency due to CD3gamma deficiency


autosomal dominant nonsyndromic hearing loss 56


short-rib thoracic dysplasia 10 with or without polydactyly


congenital dyserythropoietic anemia type type 1B


short-rib thoracic dysplasia 11 with or without polydactyly


neurodegeneration with brain iron accumulation 6


autosomal dominant nonsyndromic hearing loss 54


leukoencephalopathy with mild cerebellar ataxia and white matter edema


autosomal dominant nonsyndromic hearing loss 58


proximal myopathy with extrapyramidal signs


hereditary sclerosing poikiloderma with tendon and pulmonary involvement


autosomal recessive spinocerebellar ataxia 15


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


hyperphosphatasia with intellectual disability syndrome 4


Bosch-Boonstra-Schaaf optic atrophy syndrome


palmoplantar keratoderma, nonepidermolytic, focal or diffuse


developmental and epileptic encephalopathy, 19


Moyamoya disease with early-onset achalasia


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


polymicrogyria, bilateral perisylvian, autosomal recessive


severe combined immunodeficiency due to LCK deficiency


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


complex cortical dysplasia with other brain malformations 5


autosomal recessive spinocerebellar ataxia 16


complex cortical dysplasia with other brain malformations 6


female infertility due to zona pellucida defect


congenital heart defects, multiple types, 4


intellectual disability, autosomal recessive 42


intellectual disability, autosomal recessive 43


cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


mitochondrial complex III deficiency nuclear type 7


intellectual disability, autosomal dominant 24


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


pigmented nodular adrenocortical disease, primary, 4


developmental and epileptic encephalopathy, 21


autism spectrum disorder due to AUTS2 deficiency


autosomal recessive nonsyndromic hearing loss 101


mitochondrial complex III deficiency nuclear type 8


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome


developmental and epileptic encephalopathy, 23


congenital diarrhea 7 with exudative enteropathy


intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism


developmental and epileptic encephalopathy, 24


ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder


colobomatous microphthalmia-rhizomelic dysplasia syndrome


cholestasis, progressive familial intrahepatic, 4


amelogenesis imperfecta hypomaturation type 2A5


leukoencephalopathy, progressive, with ovarian failure


familial median cleft of the upper and lower lips


polyglucosan body myopathy 1 with or without immunodeficiency


severe combined immunodeficiency due to CTPS1 deficiency


developmental and epileptic encephalopathy, 25


frontotemporal dementia and/or amyotrophic lateral sclerosis 2


combined oxidative phosphorylation defect type 20


combined oxidative phosphorylation defect type 21


tall stature-scoliosis-macrodactyly of the great toes syndrome


severe neurodegenerative syndrome with lipodystrophy


STING-associated vasculopathy with onset in infancy


intellectual disability, autosomal recessive 44


STAT3-related early-onset multisystem autoimmune disease


kallikrein, decreased urinary activity of


ACTH-independent macronodular adrenal hyperplasia 2


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome


short stature due to primary acid-labile subunit deficiency


severe combined immunodeficiency due to DNA-PKcs deficiency


autosomal recessive nonsyndromic hearing loss 102


autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency


intellectual disability, autosomal recessive 45


LIPE-related familial partial lipodystrophy


breasts and/or nipples, aplasia or hypoplasia of, 2


Hennekam lymphangiectasia-lymphedema syndrome 2


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


autosomal recessive severe congenital neutropenia due to JAGN1 deficiency


hyperphosphatasia with intellectual disability syndrome 5


Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


hypogonadotropic hypogonadism 22 with or without anosmia


progressive encephalopathy with leukodystrophy due to DECR deficiency


Charcot-Marie-Tooth disease recessive intermediate D


autosomal recessive nonsyndromic hearing loss 103


autosomal dominant nonsyndromic hearing loss 65


mitochondrial proton-transporting ATP synthase complex deficiency


periodic fever-infantile enterocolitis-autoinflammatory syndrome


microcephaly 13, primary, autosomal recessive


autosomal recessive limb-girdle muscular dystrophy type 2U


developmental and epileptic encephalopathy, 26


porokeratosis 8, disseminated superficial actinic type


inflammatory skin and bowel disease, neonatal, 2


intellectual disability, autosomal dominant 29


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies


microcephaly 12, primary, autosomal recessive


intellectual disability, autosomal dominant 30


congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome


diabetes mellitus, noninsulin-dependent, 5


limb-girdle muscular dystrophy due to POMK deficiency


ketoacidosis due to monocarboxylate transporter-1 deficiency


wooly hair-palmoplantar keratoderma syndrome


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency


retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


mitochondrial complex III deficiency nuclear type 9


familial cold autoinflammatory syndrome 4


intellectual disability, autosomal recessive 46


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency


autosomal recessive spinocerebellar ataxia 17


developmental and epileptic encephalopathy, 27


Charcot-Marie-Tooth disease axonal type 2S


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation


macular dystrophy with central cone involvement


generalized epilepsy with febrile seizures plus, type 9


46,XX ovarian dysgenesis-short stature syndrome


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


intellectual disability, autosomal recessive 47


combined oxidative phosphorylation defect type 23


chronic atrial and intestinal dysrhythmia


autosomal recessive spinocerebellar ataxia 18


autosomal dominant mitochondrial myopathy with exercise intolerance


developmental and epileptic encephalopathy, 28


fibrosis of extraocular muscles, congenital, 5


myopathy due to calsequestrin and SERCA1 protein overload


combined oxidative phosphorylation defect type 24


lethal congenital contracture syndrome 6


short stature with nonspecific skeletal abnormalities 1


lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome


congenital contractures of the limbs and face, hypotonia, and developmental delay


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency


Charcot-Marie-Tooth disease axonal type 2U


glutamate pyruvate transaminase 2 deficiency


lethal congenital contracture syndrome 7


lethal congenital contracture syndrome 8


short-rib thoracic dysplasia 13 with or without polydactyly


intellectual disability, autosomal dominant 33


maturity-onset diabetes of the young type 13


developmental and epileptic encephalopathy, 29


autosomal dominant nonsyndromic hearing loss 67


developmental and epileptic encephalopathy, 30


lissencephaly 7 with cerebellar hypoplasia


developmental and epileptic encephalopathy, 31A


intellectual disability, autosomal dominant 34


autosomal recessive spinocerebellar ataxia 20


autosomal dominant nonsyndromic hearing loss 40


intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome


developmental and epileptic encephalopathy, 32


mandibulofacial dysostosis with alopecia


multiple mitochondrial dysfunctions syndrome 4


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4


congenital stationary night blindness 1G


intellectual disability, autosomal dominant 38


isolated focal non-epidermolytic palmoplantar keratoderma


microcephaly 14, primary, autosomal recessive


developmental and epileptic encephalopathy, 33


basal ganglia calcification, idiopathic, 6


autoimmune interstitial lung disease-arthritis syndrome


microphthalmia, isolated, with coloboma 10


combined oxidative phosphorylation defect type 25


frontotemporal dementia and/or amyotrophic lateral sclerosis 3


frontotemporal dementia and/or amyotrophic lateral sclerosis 4


congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


developmental and epileptic encephalopathy, 50


intellectual disability, autosomal recessive 50


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2


microcephaly 15, primary, autosomal recessive


epidermolysis bullosa simplex with nail dystrophy


congenital insensitivity to pain-hypohidrosis syndrome


Charcot-Marie-Tooth disease axonal type 2V


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4


lethal congenital contracture syndrome 9


neuropathy, hereditary motor and sensory, type 6B


maturity-onset diabetes of the young type 14


autosomal recessive nonsyndromic hearing loss 104


Emery-Dreifuss muscular dystrophy 3, autosomal recessive


intellectual disability, autosomal dominant 39


polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


herpes simplex encephalitis, susceptibility to, 7


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9


combined oxidative phosphorylation defect type 26


short stature, microcephaly, and endocrine dysfunction


short-rib thoracic dysplasia 14 with polydactyly


Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


spondylocostal dysostosis 6, autosomal recessive


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


intellectual disability, autosomal dominant 40


spondyloepiphyseal dysplasia, Stanescu type


autosomal recessive complex spastic paraplegia type 9B


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency


autosomal dominant Charcot-Marie-Tooth disease type 2W


progressive microcephaly-seizures-cortical blindness-developmental delay syndrome


primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection


macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome


developmental and epileptic encephalopathy, 34


developmental and epileptic encephalopathy, 35


autosomal dominant optic atrophy plus syndrome


PMP22-RAI1 contiguous gene duplication syndrome


spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome


Charcot-Marie-Tooth disease axonal type 2X


combined oxidative phosphorylation defect type 27


microcephaly 16, primary, autosomal recessive


epilepsy, idiopathic generalized, susceptibility to, 14


Charcot-Marie-Tooth disease axonal type 2Z


autosomal dominant nonsyndromic hearing loss 69


autosomal recessive nonsyndromic hearing loss 97


autosomal dominant nonsyndromic hearing loss 68


DeSanto-Shinawi syndrome due to WAC point mutation


Parkinson disease 22, autosomal dominant


rhizomelic chondrodysplasia punctata type 5


familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome


skin creases, congenital symmetric circumferential, 2


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


radioulnar synostosis with amegakaryocytic thrombocytopenia 2


intellectual disability, autosomal recessive 51


spastic paraplegia-severe developmental delay-epilepsy syndrome


leukodystrophy and acquired microcephaly with or without dystonia;


cardiac anomalies - developmental delay - facial dysmorphism syndrome


combined oxidative phosphorylation deficiency 28


hypotonia, infantile, with psychomotor retardation and characteristic facies 2


hyperphosphatasia with intellectual disability syndrome 6


combined oxidative phosphorylation deficiency 29


autosomal recessive limb-girdle muscular dystrophy type 2X


severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome


microcephaly, short stature, and impaired glucose metabolism 2


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


autosomal recessive limb-girdle muscular dystrophy type 2W


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


autosomal recessive early-onset Parkinson disease 23


progressive scapulohumeroperoneal distal myopathy


spinal muscular atrophy with congenital bone fractures 1


spinal muscular atrophy with congenital bone fractures 2


cerebellar atrophy, visual impairment, and psychomotor retardation;


intellectual disability, autosomal recessive 52


split-foot malformation-mesoaxial polydactyly syndrome


mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)


hypotonia, infantile, with psychomotor retardation and characteristic facies 3


chromosome 11p13 deletion syndrome, distal


autosomal recessive spastic paraplegia type 76


immunodeficiency-centromeric instability-facial anomalies syndrome 3


immunodeficiency-centromeric instability-facial anomalies syndrome 4


progeroid and marfanoid aspect-lipodystrophy syndrome


intellectual disability, autosomal recessive 53


striatal degeneration, autosomal dominant 2


Charcot-Marie-Tooth disease axonal type 2CC


chorea, childhood-onset, with psychomotor retardation


agammaglobulinemia 8, autosomal dominant


intellectual disability, autosomal dominant 41


spinocerebellar ataxia, autosomal recessive 22


spinocerebellar ataxia, autosomal recessive 23


TELO2-related intellectual disability-neurodevelopmental disorder


retinitis pigmentosa and erythrocytic microcytosis


autosomal dominant nonsyndromic hearing loss 70


autosomal dominant nonsyndromic hearing loss 66


intellectual disability, autosomal dominant 42


combined oxidative phosphorylation defect type 30


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


intellectual disability, autosomal dominant 43


developmental and epileptic encephalopathy, 37


autoimmune disease, multisystem, infantile-onset, 2


macrocephaly, dysmorphic facies, and psychomotor retardation


autosomal recessive severe congenital neutropenia due to CSF3R deficiency


Charcot-Marie-Tooth disease axonal type 2T


developmental and epileptic encephalopathy, 38


hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


congenital stationary night blindness 1H


intellectual disability, autosomal recessive 54


Duane retraction syndrome 3 with or without deafness


cholestasis, progressive familial intrahepatic, 5


severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


hyperuricemic nephropathy, familial juvenile type 4


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


developmental and epileptic encephalopathy, 40


congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4


autosomal recessive limb-girdle muscular dystrophy type 2Y


congenital disorder of glycosylation, type IAA


encephalopathy due to defective mitochondrial and peroxisomal fission 2


Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;


short-rib thoracic dysplasia 15 with polydactyly


microcephaly 17, primary, autosomal recessive


growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy


autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive


short-rib thoracic dysplasia 16 with or without polydactyly


developmental and epileptic encephalopathy, 41


developmental and epileptic encephalopathy, 42


tall stature-intellectual disability-renal anomalies syndrome


developmental and epileptic encephalopathy, 43


epilepsy, familial focal, with variable foci 2


epilepsy, familial focal, with variable foci 3


intellectual disability, autosomal recessive 56


developmental and epileptic encephalopathy, 44


spinocerebellar ataxia, autosomal recessive 24


neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset


arthrogryposis, distal, with impaired proprioception and touch


developmental and epileptic encephalopathy, 45


mitochondrial DNA depletion syndrome 15 (hepatocerebral type)


short stature-brachydactyly-obesity-global developmental delay syndrome


developmental and epileptic encephalopathy, 46


short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay


developmental and epileptic encephalopathy, 47


intellectual developmental disorder, autosomal recessive 74


gnb5-related intellectual disability-cardiac arrhythmia syndrome


Ehlers-Danlos syndrome, periodontal type 2


language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


intellectual disability, autosomal recessive 57


lethal congenital contracture syndrome 11


encephalopathy, progressive, with amyotrophy and optic atrophy


amelogenesis imperfecta, hypomaturation type, IIa6


chromosome 19q13.11 deletion syndrome, proximal


autosomal recessive spastic paraplegia type 78


lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome


autosomal recessive limb-girdle muscular dystrophy type 2R1


lung disease, immunodeficiency, and chromosome breakage syndrome;


global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies


neurodevelopmental disorder with hypotonia, seizures, and absent language


intellectual disability, autosomal recessive 58


developmental and epileptic encephalopathy, 48


developmental and epileptic encephalopathy, 49


epilepsy, early-onset, vitamin B6-dependent


epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


spastic paraplegia, intellectual disability, nystagmus, and obesity


coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


ichthyosis, congenital, autosomal recessive 12


intellectual disability, autosomal recessive 59


hypotonia, ataxia, and delayed development syndrome


intellectual developmental disorder with dysmorphic facies and ptosis


ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type


developmental and epileptic encephalopathy, 51


cerebroretinal microangiopathy with calcifications and cysts 2


myelodysplastic syndrome with excess blasts-1


myelodysplastic syndrome with excess blasts-2


ileal neuroendocrine tumor, well differentiated, low or intermediate grade


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


gallbladder neuroendocrine tumor, grade 1/2


early-onset autosomal dominant Alzheimer disease


acute myeloid leukemia with t(8;21)(q22;q22) translocation


chronic diarrhea due to glucoamylase deficiency


congenital enterocyte heparan sulfate deficiency


aniridia-ptosis-intellectual disability-familial obesity syndrome


aniridia - intellectual disability syndrome


ankyloblepharon filiforme-imperforate anus syndrome


isolated lissencephaly type 1 without known genetic defects


arachnodactyly-abnormal ossification-intellectual disability syndrome


severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome


brachydactyly-mesomelia-intellectual disability-heart defects syndrome


cardiomyopathy-cataract-hip spine disease syndrome


maternally-inherited cardiomyopathy and hearing loss


segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome


cataract-intellectual disability-anal atresia-urinary defects syndrome


night blindness-skeletal anomalies-dysmorphism syndrome


drug rash with eosinophilia and systemic symptoms


leukoencephalopathy with bilateral anterior temporal lobe cysts


distal hereditary motor neuropathy type 2


neuronopathy, distal hereditary motor, type 5A


distal hereditary motor neuropathy type 7


secondary hypoparathyroidism due to impaired parathormon secretion


primary central nervous system vasculitis


rapidly involuting congenital hemangioma


intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome


thin ribs-tubular bones-dysmorphism syndrome


craniodigital syndrome-intellectual disability syndrome


craniofrontonasal dysplasia-Poland anomaly syndrome


carnitine palmitoyltransferase II deficiency


congenital or early infantile CACH syndrome


acquired hemophagocytic lymphohistiocytosis associated with malignant disease


dystrophic epidermolysis bullosa, nails only


febrile infection-related epilepsy syndrome


rolandic epilepsy-speech dyspraxia syndrome


posttransplant acute limbic encephalitis


X-linked intellectual disability, Cilliers type


X-linked intellectual disability, van Esch type


multiple epiphyseal dysplasia due to collagen 9 anomaly


FASTKD2-related infantile mitochondrial encephalomyopathy


porokeratotic eccrine ostial and dermal duct nevus


sporadic fetal brain disruption sequence


familial idiopathic dilatation of the right atrium


myeloid neoplasm associated with PDGFRA rearrangement


myeloid neoplasm associated with PDGFRB rearrangement


combined immunodeficiency due to CRAC channel dysfunction


transient hypogammaglobulinemia of infancy


immunodeficiency due to a classical component pathway complement deficiency


immunodeficiency due to a late component of complement deficiency


T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency


T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta


autosomal recessive centronuclear myopathy


congenital vitamin K-dependent coagulation factors deficiency


microcephaly-polymicrogyria-corpus callosum agenesis syndrome


craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome


progressive familial intrahepatic cholestasis


facial dysmorphism-shawl scrotum-joint laxity syndrome


dysmorphism-cleft palate-loose skin syndrome


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2


Prader-Willi syndrome due to translocation


Prader-Willi syndrome due to imprinting mutation


symptomatic form of hemophilia A in female carriers


symptomatic form of hemophilia B in female carriers


moderate multiminicore disease with hand involvement


antenatal multiminicore disease with arthrogryposis multiplex congenita


hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation


autosomal dominant non-syndromic intellectual disability


autosomal dominant spondylocostal dysostosis


unilateral aplasia of the mullerian ducts


hidrotic ectodermal dysplasia, Halal type


autosomal dominant hypohidrotic ectodermal dysplasia


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss


epiphyseal dysplasia-hearing loss-dysmorphism syndrome


eosinophilic granulomatosis with polyangiitis


familial isolated hypoparathyroidism due to impaired PTH secretion


isolated autosomal dominant hypomagnesemia, Glaudemans type


cleft lip/palate-deafness-sacral lipoma syndrome


cleft palate-short stature-vertebral anomalies syndrome


osteochondritis of tarsal/metatarsal bone


progressive non-infectious anterior vertebral fusion


symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers


subacute inflammatory demyelinating polyneuropathy


axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


autosomal dominant rhegmatogenous retinal detachment


hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome


dysmorphism-pectus carinatum-joint laxity syndrome


46,XX ovotesticular disorder of sex development


Hirschsprung disease-type D brachydactyly syndrome


congenitally corrected transposition of the great arteries


isolated congenitally uncorrected transposition of the great arteries


congenitally uncorrected transposition of the great arteries with cardiac malformation


classic pantothenate kinase-associated neurodegeneration


atypical pantothenate kinase-associated neurodegeneration


Niemann-Pick disease type C, severe perinatal form


Niemann-Pick disease type C, severe early infantile neurologic onset


Niemann-Pick disease type C, late infantile neurologic onset


Niemann-Pick disease type C, juvenile neurologic onset


Niemann-Pick disease type C, adult neurologic onset


mucopolysaccharidosis type 2, severe form


mucopolysaccharidosis type 2, attenuated form


chronic respiratory distress with surfactant metabolism deficiency


palmoplantar keratoderma-spastic paralysis syndrome


xeroderma pigmentosum-Cockayne syndrome complex


maternal hyperthermia induced birth defects


erosive pustular dermatosis of the scalp


hypogonadism-mitral valve prolapse-intellectual disability syndrome


hypogonadotropic hypogonadism-retinitis pigmentosa syndrome


cerebellar hypoplasia-tapetoretinal degeneration syndrome


sporadic infantile bilateral striatal necrosis


foveal hypoplasia-presenile cataract syndrome


hypothyroidism due to deficient transcription factors involved in pituitary development or function


congenital hypothyroidism due to maternal intake of antithyroid drugs


hypotrichosis-intellectual disability, Lopes type


multiple system atrophy, cerebellar type


progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome


autosomal dominant Charcot-Marie-Tooth disease type 2M


dysmorphism-short stature-deafness-disorder of sex development syndrome


ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome


silver-Russell syndrome due to 7p11.2p13 microduplication


silver-Russell syndrome due to an imprinting defect of 11p15


silver-Russell syndrome due to 11p15 microduplication


silver-Russell syndrome due to maternal uniparental disomy of chromosome 11


paraparetic variant of Guillain-Barre syndrome


Hermansky-Pudlak syndrome with pulmonary fibrosis


Hermansky-Pudlak syndrome without pulmonary fibrosis


aldosterone-producing adrenal cortex adenoma


microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome


epidermolysis bullosa simplex with anodontia/hypodontia


Kallmann syndrome-heart disease syndrome


glycogen storage disease due to lactate dehydrogenase deficiency


IL10-related early-onset inflammatory bowel disease


hyperphenylalaninemia due to tetrahydrobiopterin deficiency


glaucoma secondary to spherophakia/ectopia lentis and megalocornea


progressive supranuclear palsy-corticobasal syndrome


hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome


biliary atresia with splenic malformation syndrome


congenital pulmonary airway malformation


sporadic adult-onset ataxia of unknown etiology


autosomal recessive secondary polycythemia not associated with VHL gene


dysraphism-cleft lip/palate-limb reduction defects syndrome


autosomal recessive ataxia due to PEX10 deficiency


autosomal recessive hypohidrotic ectodermal dysplasia


lower limb deficiency-hypospadias syndrome


limb transversal defect-cardiac anomaly syndrome


paternal uniparental disomy of chromosome 1


maternal uniparental disomy of chromosome 1


autosomal recessive primary microcephaly


sickle cell-hemoglobin c disease syndrome


sickle cell-hemoglobin d disease syndrome


sickle cell-hemoglobin E disease syndrome


hereditary persistence of fetal hemoglobin-sickle cell disease syndrome


localized junctional epidermolysis bullosa, non-Herlitz type


medulloblastoma with extensive nodularity


microcephaly-seizures-intellectual disability-heart disease syndrome


microcephaly-microcornea syndrome, Seemanova type


multiple congenital anomalies due to 14q32.2 maternally expressed gene defect


paternal 14q32.2 hypomethylation syndrome


maternal 14q32.2 hypermethylation syndrome


autosomal recessive progressive external ophthalmoplegia


renal tubulopathy-encephalopathy-liver failure syndrome


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome


myalgia-eosinophilia syndrome associated with tryptophan


mitochondrial myopathy-lactic acidosis-deafness syndrome


methylmalonic aciduria and homocystinuria


autosomal recessive sideroblastic anemia


distal 7q11.23 microduplication syndrome


paternal 20q13.2q13.3 microdeletion syndrome


distal 22q11.2 microduplication syndrome


maternal uniparental disomy of chromosome X


paternal uniparental disomy of chromosome X


Mowat-Wilson syndrome due to monosomy 2q22


Mowat-Wilson syndrome due to a ZEB2 point mutation


Alagille syndrome due to 20p12 microdeletion


Alagille syndrome due to a JAG1 point mutation


Okihiro syndrome due to 20q13 microdeletion


Okihiro syndrome due to a point mutation


Kleefstra syndrome due to a point mutation


infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


acute necrotizing encephalopathy of childhood


microcephalic osteodysplastic primordial dwarfism types I and III


thiamine-responsive maple syrup urine disease


DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


isolated focal cortical dysplasia type IIa


isolated Dandy-Walker malformation with hydrocephalus


isolated Dandy-Walker malformation without hydrocephalus


idiopathic pulmonary arterial hypertension


heritable pulmonary arterial hypertension


drug- or toxin-induced pulmonary arterial hypertension


behavioral variant of frontotemporal dementia


frontotemporal dementia with motor neuron disease


imperforate oropharynx-costo vetebral anomalies syndrome


malignant epithelial tumor of salivary glands


benign epithelial tumor of salivary glands


mucopolysaccharidosis type 6, rapidly progressing


mucopolysaccharidosis type 6, slowly progressing


autosomal dominant hyperinsulinism due to SUR1 deficiency


autosomal dominant hyperinsulinism due to Kir6.2 deficiency


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia


symptomatic form of Coffin-Lowry syndrome in female carriers


osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome


osteopathia striata-pigmentary dermopathy-white forelock syndrome


polycystic ovaries-urethral sphincter dysfunction syndrome


vitamin B12-responsive methylmalonic acidemia


Pelizaeus-Merzbacher disease, classic form


Pelizaeus-Merzbacher disease, transitional form


Pelizaeus-Merzbacher disease in female carriers


autosomal semi-dominant severe lipodystrophic laminopathy


recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome


hereditary sensorimotor neuropathy with hyperelastic skin


familial progressive hyper- and hypopigmentation


pseudoxanthomatous diffuse cutaneous mastocytosis


spastic paraplegia-facial-cutaneous lesions syndrome


renal caliceal diverticuli-deafness syndrome


DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


immunoglobulin G4-related sclerosing disease


reversible cerebral vasoconstriction syndrome


glycerol kinase deficiency, juvenile form


short stature-webbed neck-heart disease syndrome


short stature-deafness-neutrophil dysfunction-dysmorphism syndrome


autosomal recessive hypophosphatemic rickets


early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation


pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency


vitamin B12-unresponsive methylmalonic acidemia type mut0


idiopathic chronic eosinophilic pneumonia


hereditary acrokeratotic poikiloderma, Weary type


preaxial polydactyly-colobomata-intellectual disability syndrome


polyneuropathy-intellectual disability-acromicria-premature menopause syndrome


congenital herpes simplex virus infection


familial clubfoot due to 5q31 microdeletion


familial clubfoot due to PITX1 point mutation


acute generalized exanthematous pustulosis


malignant migrating partial seizures of infancy


hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome


familial isolated arrhythmogenic ventricular dysplasia, biventricular form


familial isolated arrhythmogenic ventricular dysplasia, right dominant form


hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome


neonatal inflammatory skin and bowel disease


familial isolated clinodactyly of fingers


46,XX disorder of sex development-anorectal anomalies syndrome


mirror polydactyly-vertebral segmentation-limbs defects syndrome


primary cutaneous anaplastic large cell lymphoma


ALK-positive anaplastic large cell lymphoma


X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome


congenital hereditary facial paralysis-variable hearing loss syndrome


X-linked complicated spastic paraplegia type 1


intellectual disability-short stature-hypertelorism syndrome


intellectual disability-polydactyly-uncombable hair syndrome


vitamin B12-responsive methylmalonic acidemia, type cblDv2


erythrocyte galactose epimerase deficiency


generalized galactose epimerase deficiency


glycogen storage disease due to acid maltase deficiency, infantile onset


glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form


glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form


glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form


glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form


glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


Tay-Sachs disease, b variant, infantile form


Tay-Sachs disease, b variant, juvenile form


Tay-Sachs disease, B variant, adult form


metachromatic leukodystrophy, late infantile form


metachromatic leukodystrophy, adult form


developmental and speech delay due to SOX5 deficiency


gastric adenocarcinoma and proximal polyposis of the stomach


intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome


severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


segmental progressive overgrowth syndrome with fibroadipose hyperplasia


lethal arteriopathy syndrome due to fibulin-4 deficiency


atypical dentin dysplasia due to SMOC2 deficiency


multiple sclerosis-ichthyosis-factor VIII deficiency syndrome


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form


X-linked spasticity-intellectual disability-epilepsy syndrome


chondroectodermal dysplasia with night blindness


MIT family translocation renal cell carcinoma


autosomal recessive myogenic arthrogryposis multiplex congenita


acute myeloid leukemia with CEBPA somatic mutations


familial papillary or follicular thyroid carcinoma


autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency


autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency


autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency


autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency


steroid dehydrogenase deficiency-dental anomalies syndrome


X-linked Mendelian susceptibility to mycobacterial diseases


inherited glutathione synthetase deficiency


white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome


deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome


hearing loss-familial salivary gland insensitivity to aldosterone syndrome


central nervous system calcification-deafness-tubular acidosis-anemia syndrome


T-cell immunodeficiency with epidermodysplasia verruciformis


multiple paragangliomas associated with polycythemia


hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation


aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome


autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation


46,XY ovotesticular disorder of sex development


non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


catecholaminergic polymorphic ventricular tachycardia


autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency


fatty acid hydroxylase-associated neurodegeneration


hereditary thrombocytosis with transverse limb defect


adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy


acute megakaryoblastic leukemia without down syndrome


spastic paraplegia-Paget disease of bone syndrome


adult-onset distal myopathy due to VCP mutation


Jessner lymphocytic infiltration of the skin


umbilical cord ulceration-intestinal atresia syndrome


idiopathic disseminated cytomegalovirus infection


intellectual disability-obesity-brain malformations-facial dysmorphism syndrome


focal epilepsy-intellectual disability-cerebro-cerebellar malformation


progressive myoclonic epilepsy with dystonia


autosomal recessive cerebellar ataxia with late-onset spasticity


brain dopamine-serotonin vesicular transport disease


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


temperature-sensitive oculocutaneous albinism type 1


pyruvate carboxylase deficiency, infantile form


pyruvate carboxylase deficiency, severe neonatal type


pyruvate carboxylase deficiency, benign type


atypical hemolytic-uremic syndrome with DGKE deficiency


primary non-essential cutis verticis gyrata


combined deficiency of factor V and factor VIII


autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome


mitochondrial DNA depletion syndrome, hepatocerebrorenal form


acute encephalopathy with biphasic seizures and late reduced diffusion


LMNA-related cardiocutaneous progeria syndrome


childhood-onset autosomal recessive myopathy with external ophthalmoplegia


hereditary sensory and autonomic neuropathy type 1


generalized epilepsy with febrile seizures plus


Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


Koolen-de Vries syndrome due to a point mutation


intellectual disability-hyperkinetic movement-truncal ataxia syndrome


2p21 microdeletion syndrome without cystinuria


diffuse palmoplantar keratoderma with painful fissures


focal palmoplantar keratoderma with joint keratoses


intellectual disability-facial dysmorphism-hand anomalies syndrome


spondyloepimetaphyseal dysplasia, Isidor type


acute myeloid leukemia with t(8;16)(p11;p13) translocation


peripheral primitive neuroectodermal tumor


XYLT1-congenital disorder of glycosylation


congenital muscular dystrophy with intellectual disability


muscle-eye-brain disease with bilateral multicystic leucodystrophy


infantile-onset mesial temporal lobe epilepsy with severe cognitive regression


fatal post-viral neurodegenerative disorder


growth retardation-mild developmental delay-chronic hepatitis syndrome


primary microcephaly-mild intellectual disability-young-onset diabetes syndrome


multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


multiple acyl-CoA dehydrogenase deficiency, mild type


Joubert syndrome with Jeune asphyxiating thoracic dystrophy


periodic paralysis with later-onset distal motor neuropathy


MAN1B1-congenital disorder of glycosylation


KLHL9-related early-onset distal myopathy


nebulin-related early-onset distal myopathy


secondary non-traumatic avascular necrosis


male infertility with teratozoospermia due to single gene mutation


autosomal recessive spastic paraplegia type 59


autosomal recessive spastic paraplegia type 60


autosomal recessive spastic paraplegia type 66


autosomal recessive spastic paraplegia type 67


autosomal recessive spastic paraplegia type 69


autosomal recessive spastic paraplegia type 70


autosomal recessive spastic paraplegia type 71


Huntington disease-like syndrome due to C9ORF72 expansions


partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome


acute myeloid leukemia with t(6;9)(p23;q34)


acute myeloid leukemia with t(9;11)(p22;q23)


acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)


megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)


acute myeloid leukemia with NPM1 somatic mutations


autosomal recessive distal renal tubular acidosis


FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


clear cell papillary renal cell carcinoma


spinal muscular atrophy with respiratory distress type 2


Angelman syndrome due to a point mutation


Angelman syndrome due to imprinting defect in 15q11-q13


mild phosphoribosylpyrophosphate synthetase superactivity


severe phosphoribosylpyrophosphate synthetase superactivity


proton-pump inhibitor-responsive esophageal eosinophilia


pulmonary non-tuberculous mycobacterial infection


PRKAR1B-related neurodegenerative dementia with intermediate filaments


glycogen storage disease due to acid maltase deficiency, late-onset


autosomal recessive severe congenital neutropenia due to CXCR2 deficiency


hereditary clear cell renal cell carcinoma


microcephaly-short stature-intellectual disability-facial dysmorphism syndrome


X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome


microcephaly-complex motor and sensory axonal neuropathy syndrome


congenital myopathy with myasthenic-like onset


short stature-advanced bone age-early-onset osteoarthritis syndrome


autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome


contractures-developmental delay-Pierre Robin syndrome


severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome


intrauterine growth restriction-short stature-early adult-onset diabetes syndrome


non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa


autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


SFTPC- related interstitial lung disease


combined hamartoma of the retina and retinal pigment epithelium


early-onset posterior subcapsular cataract


undetermined early-onset epileptic encephalopathy


autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome


susceptibility to localized juvenile periodontitis


autosomal dominant complex spastic paraplegia type 9B


hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome


pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome


IgG4-related submandibular gland disease


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


congenital insensitivity to pain with severe intellectual disability


incessant infant ventricular tachycardia


hereditary neuroendocrine tumor of small intestine


infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


X-linked intellectual disability-hypotonia-movement disorder syndrome


intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome


X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


corpus callosum agenesis-macrocephaly-hypertelorism syndrome


intellectual disability syndrome due to a DYRK1A point mutation


familial gastric type 1 neuroendocrine tumor


hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome


childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


microcephalic primordial dwarfism due to RTTN deficiency


cryptogenic multifocal ulcerous stenosing enteritis


chronic enteropathy associated with SLCO2A1 gene


autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


congenital generalized hypercontractile muscle stiffness syndrome


cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


congenital bilateral absence of vas deferens


MYO5B-related progressive familial intrahepatic cholestasis


lethal hydranencephaly-diaphragmatic hernia syndrome


high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


isolated neonatal sclerosing cholangitis


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome


X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability


global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome


X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


HTRA1-related autosomal dominant cerebral small vessel disease


nodular regenerative hyperplasia of the liver


transgrediens et progrediens palmoplantar keratoderma


Zellweger-like syndrome without peroxisomal anomalies


anterior cutaneous nerve entrapment syndrome


corticosteroid-sensitive aseptic abscess syndrome


familial or sporadic hemiplegic migraine


medial condensing osteitis of the clavicle


distal myopathy with vocal cord weakness


homocystinuria without methylmalonic aciduria


short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


familial idiopathic steroid-resistant nephrotic syndrome


benign recurrent intrahepatic cholestasis


maternally-inherited progressive external ophthalmoplegia


short fifth metacarpals-insulin resistance syndrome


sensorineural hearing loss-early graying-essential tremor syndrome


thrombocytopenia with congenital dyserythropoietic anemia


X-linked intellectual disability with isolated growth hormone deficiency


idiopathic steroid-sensitive nephrotic syndrome


congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization


bilateral acute depigmentation of the iris


immunodeficiency due to selective anti-polysaccharide antibody deficiency


dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome


benign paroxysmal torticollis of infancy


obesity due to melanocortin 4 receptor deficiency


continuous spikes and waves during sleep


global developmental delay-osteopenia-ectodermal defect syndrome


tubular renal disease-cardiomyopathy syndrome


ossification anomalies-psychomotor developmental delay syndrome


spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome


hereditary thrombophilia due to congenital protein S deficiency


hereditary thrombophilia due to congenital protein C deficiency


brain malformation-congenital heart disease-postaxial polydactyly syndrome


myelodysplastic syndrome with ring sideroblasts


auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome


non-syndromic X-linked intellectual disability


IgG4-related dacryoadenitis and sialadenitis


AKT2-related familial partial lipodystrophy


hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome


interstitial granulomatous dermatitis with arthritis


disseminated superficial actinic porokeratosis


alpha-N-acetylgalactosaminidase deficiency type 3


vitamin B12-unresponsive methylmalonic acidemia type mut-


generalized junctional epidermolysis bullosa non-Herlitz type


junctional epidermolysis bullosa inversa


late-onset junctional epidermolysis bullosa


recessive dystrophic epidermolysis bullosa inversa


punctate palmoplantar keratoderma type 1


autosomal recessive hyperinsulinism due to SUR1 deficiency


autosomal recessive hyperinsulinism due to Kir6.2 deficiency


encephalopathy due to sulfite oxidase deficiency


steroid-responsive encephalopathy associated with autoimmune thyroiditis


macrostomia-preauricular tags-external ophthalmoplegia syndrome


desmin-related myopathy with Mallory body-like inclusions


facial onset sensory and motor neuronopathy


microcephalic osteodysplastic dysplasia, Saul-Wilson type


fetal and neonatal alloimmune thrombocytopenia


X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome


X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome


X-linked intellectual disability-macrocephaly-macroorchidism syndrome


X-linked intellectual disability, Pai type


X-linked intellectual disability, Seemanova type


X-linked intellectual disability, Stevenson type


X-linked intellectual disability, Stoll type


X-linked intellectual disability-acromegaly-hyperactivity syndrome


X-linked neurodegenerative syndrome, Bertini type


X-linked neurodegenerative syndrome, Hamel type


X-linked intellectual disability-ataxia-apraxia syndrome


rheumatoid factor-negative juvenile idiopathic arthritis


oligoarticular juvenile idiopathic arthritis


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis


psoriasis-related juvenile idiopathic arthritis


enthesitis-related juvenile idiopathic arthritis


dextro-looped transposition of the great arteries


benign adult familial myoclonic epilepsy


myelodysplastic syndrome with excess blasts


acute myeloid leukemia with multilineage dysplasia


T-cell large granular lymphocyte leukemia


subcutaneous panniculitis-like T-cell lymphoma


diffuse palmoplantar keratoderma - acrocyanosis syndrome


obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome


recessive dystrophic epidermolysis bullosa-generalized other


undifferentiated connective tissue syndrome


hemolytic anemia due to glutathione reductase deficiency


drug-induced autoimmune hemolytic anemia


Shiga toxin-associated hemolytic uremic syndrome


acquired aneurysmal subarachnoid hemorrhage


severe early-onset axonal neuropathy due to MFN2 deficiency


hereditary motor and sensory neuropathy type 6


panniculitis and localized lipodystrophy


telangiectasia macularis eruptiva perstans


autosomal dominant nonsyndromic hearing loss


pituitary deficiency due to Rathke's pouch cysts


pituitary deficiency due to empty sella turcica syndrome


familial thoracic aortic aneurysm and aortic dissection


persistent hyperplastic primary vitreous


short rib-polydactyly syndrome, Majewski type


spondyloepimetaphyseal dysplasia, PAPSS2 type


acquired thrombotic thrombocytopenic purpura


X-linked intellectual disability, Porteous type


X-linked intellectual disability, Golabi-Ito-hall type


X-linked intellectual disability, Sutherland-Haan type


severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia


iatrogenic or traumatic pituitary deficiency


congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies


8p inverted duplication/deletion syndrome


Kleefstra syndrome due to 9q34 microdeletion


maternal uniparental disomy of chromosome 2


maternal uniparental disomy of chromosome 4


maternal uniparental disomy of chromosome 6


silver-Russell syndrome due to maternal uniparental disomy of chromosome 7


maternal uniparental disomy of chromosome 9


maternal uniparental disomy of chromosome 14


maternal uniparental disomy of chromosome 20


paternal uniparental disomy of chromosome 5


paternal uniparental disomy of chromosome 6


growth hormone-producing pituitary gland neoplasm


Leydig cell hypoplasia due to complete LH resistance


Leydig cell hypoplasia due to partial LH resistance


hereditary sensory and autonomic neuropathy type 2


hereditary continuous muscle fiber activity


parkinsonism with dementia of Guadeloupe


unilateral multicystic dysplastic kidney


Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


autosomal dominant nocturnal frontal lobe epilepsy


Prader-Willi syndrome due to paternal 15q11q13 deletion


Angelman syndrome due to maternal 15q11q13 deletion


Angelman syndrome due to paternal uniparental disomy of chromosome 15


familial focal epilepsy with variable foci


acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)


acute myeloid leukemia with 11q23 abnormalities


acute myeloblastic leukemia with maturation


primary mediastinal large B-cell lymphoma


autosomal dominant Emery-Dreifuss muscular dystrophy


congenital dyserythropoietic anemia type 1


postsynaptic congenital myasthenic syndrome


acute inflammatory demyelinating polyradiculoneuropathy


multiple system atrophy, parkinsonian type


posterior polymorphous corneal dystrophy


multifocal pattern dystrophy simulating fundus flavimaculatus


congenitally uncorrected transposition of the great arteries with coarctation


complete atrioventricular canal-ventricle hypoplasia syndrome


complete atrioventricular canal-tetralogy of fallot syndrome


atrial septal defect, ostium secundum type


atrial septal defect, coronary sinus type


atrial septal defect, sinus venosus type


atrial septal defect, ostium primum type


congenital partial pulmonary venous return anomaly


hemolytic anemia due to erythrocyte adenosine deaminase overproduction


Turner syndrome due to structural X chromosome anomalies


sulfite oxidase deficiency due to molybdenum cofactor deficiency


atypical progressive supranuclear palsy syndrome


leukoencephalopathy with vanishing white matter 1


precursor B-cell acute lymphoblastic leukemia


precursor T-cell acute lymphoblastic leukemia


adult pulmonary Langerhans cell histiocytosis


acute megakaryoblastic leukemia in down syndrome


Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency


malignant Sertoli-Leydig cell tumor of ovary


autosomal dominant Charcot-Marie-Tooth disease type 2K


microcephaly, growth restriction, and increased sister chromatid exchange 2


developmental and epileptic encephalopathy 91


developmental and epileptic encephalopathy 92


developmental and epileptic encephalopathy 93


microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome


Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


Ehlers-Danlos syndrome, musculocontractural type 1


Ehlers-Danlos syndrome, spondylodysplastic type, 1


Ehlers-Danlos syndrome, periodontal type 1


spondylocostal dysostosis 1, autosomal recessive


glycogen storage disease due to liver phosphorylase kinase deficiency


autosomal dominant epidermolytic ichthyosis


mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


multiple system atrophy 1, susceptibility to


congenital short bowel syndrome, autosomal recessive


tubulointerstitial kidney disease, autosomal dominant, 2


combined oxidative phosphorylation deficiency 22


autosomal recessive agammaglobulinemia 1


ACTH-independent macronodular adrenal hyperplasia 1


optic atrophy 10 with or without ataxia, intellectual disability, and seizures


multiple benign circumferential skin creases on limbs 1


ectodermal dysplasia and immunodeficiency 1


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome


contractures, pterygia, and variable skeletal fusions syndrome 1B


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


epilepsy, childhood absence, susceptibility to, 1


diencephalic-mesencephalic junction dysplasia syndrome 2


neuropathy, congenital hypomyelinating, 2


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


epilepsy, juvenile absence, susceptibility to, 1


congenital disorder of glycosylation with defective fucosylation 1


congenital disorder of glycosylation with defective fucosylation 2


encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


capillary malformation-arteriovenous malformation 1


capillary malformation-arteriovenous malformation 2


hypomagnesemia, seizures, and intellectual disability 1


hypomagnesemia, seizures, and intellectual disability 2


gaze palsy, familial horizontal, with progressive scoliosis 1


hypoparathyroidism, familial isolated, 2


congenital vertebral-cardiac-renal anomalies syndrome


pulmonary alveolar proteinosis with hypogammaglobulinemia


neurodevelopmental disorder with cerebellar atrophy and with or without seizures


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


intellectual disability, autosomal recessive 64


intellectual disability, autosomal dominant 58


intellectual disability, autosomal recessive 65


encephalitis/encephalopathy, mild, with reversible myelin vacuolization


mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5


hereditary progressive chorea without dementia


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


craniodiaphyseal dysplasia, autosomal dominant


complete androgen insensitivity syndrome


congenital fibrosis of extraocular muscles type 1


Emery-Dreifuss muscular dystrophy 2, autosomal dominant


central centrifugal cicatricial alopecia


immunodeficiency 14b, autosomal recessive


intellectual developmental disorder, autosomal dominant 65


developmental and epileptic encephalopathy 96


hypothyroidism, congenital, nongoitrous, 2


neuropathy, hereditary sensory and autonomic, type 2A


neurodegeneration with brain iron accumulation 2A


pituitary hormone deficiency, combined, 1


surfactant metabolism dysfunction, pulmonary, 2


facial paresis, hereditary congenital, 1


amyloidosis, primary localized cutaneous, 1


dyschromatosis universalis hereditaria 1


glomerulopathy with fibronectin deposits 1


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1


basal ganglia calcification, idiopathic, 1


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1


hypertrophic osteoarthropathy, primary, autosomal recessive, 1


X-linked lymphoproliferative disease due to SH2D1A deficiency


linear skin defects with multiple congenital anomalies 1


myopathy, lactic acidosis, and sideroblastic anemia 1


megalencephalic leukoencephalopathy with subcortical cysts 1


epilepsy, familial focal, with variable foci 1


radioulnar synostosis with amegakaryocytic thrombocytopenia 1


herpes simplex encephalitis, susceptibility to, 1


cerebroretinal microangiopathy with calcifications and cysts 1


ectodermal dysplasia-syndactyly syndrome 1


hypotonia, infantile, with psychomotor retardation and characteristic facies 1


congenital muscular dystrophy with cataracts and intellectual disability


central nervous system infectious disorder


tenosynovial giant cell tumor, diffuse type


autoinflammatory syndrome, familial, X-linked, Behcet-like 2


myopathy, distal, 7, adult-onset, X-linked


intellectual developmental disorder, X-linked, syndromic, Pilorge type


immunodeficiency 98 with autoinflammation, X-linked


multiple congenital anomalies-neurodevelopmental syndrome, X-linked


developmental and epileptic encephalopathy, 90


azoospermia, obstructive, with nephrolithiasis


Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


microcephaly, epilepsy, and diabetes syndrome 2


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


mitochondrial complex 1 deficiency, nuclear type 12


mitochondrial complex 1 deficiency, nuclear type 30


intellectual developmental disorder, X-linked 108


congenital disorder of glycosylation, type ICC


hypothyroidism, congenital, nongoitrous, 8


hypothyroidism, congenital, nongoitrous, 9


intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type


congenital disorder of glycosylation, type IIr


immunodeficiency 74, COVID-19-related, X-linked


developmental and epileptic encephalopathy, 85, with or without midline brain defects


peripheral neuropathy, autosomal recessive, with or without impaired intellectual development


muscular dystrophy, limb-girdle, autosomal dominant 4


severe combined immunodeficiency due to CARMIL2 deficiency


muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


muscular dystrophy, limb-girdle, autosomal recessive 23


developmental and epileptic encephalopathy, 67


glycosylphosphatidylinositol biosynthesis defect 18


intellectual developmental disorder with hypertelorism and distinctive facies


extraoral halitosis due to methanethiol oxidase deficiency


intellectual developmental disorder, autosomal dominant 69


epilepsy, early-onset, with or without developmental delay


combined oxidative phosphorylation deficiency 40


combined oxidative phosphorylation deficiency 41


combined oxidative phosphorylation deficiency 42


alopecia-intellectual disability syndrome 4


hypogonadotropic hypogonadism 25 with anosmia


muscular dystrophy, limb-girdle, autosomal recessive 26


combined oxidative phosphorylation deficiency 43


combined oxidative phosphorylation deficiency 44


neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


neurodevelopmental disorder with hypotonia, microcephaly, and seizures


neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline


skeletal dysplasia, mild, with joint laxity and advanced bone age


seizures, early-onset, with neurodegeneration and brain calcifications


leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome


leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome

Autosomal dominant germline de novo mutation


neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


hereditary glaucoma, primary closed-angle


congenital disorder of glycosylation, type iit


neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


microcephaly, developmental delay, and brittle hair syndrome


intellectual developmental disorder with autistic features and language delay, with or without seizures


developmental and epileptic encephalopathy, 86


neuronopathy, distal hereditary motor, autosomal recessive 8


neurodevelopmental, jaw, eye, and digital syndrome


developmental and epileptic encephalopathy, 87


neurodevelopmental disorder with language impairment and behavioral abnormalities


arrhythmogenic right ventricular dysplasia, familial, 14


neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


agenesis of corpus callosum, cardiac, ocular, and genital syndrome


granulomatous disease, chronic, autosomal recessive, 5


hyper-IgE recurrent infection syndrome 5, autosomal recessive


heterotaxy, visceral, 9, autosomal, with male infertility


developmental and epileptic encephalopathy, 88


spondylometaphyseal dysplasia with corneal dystrophy


vertebral, cardiac, renal, and limb defects syndrome 3


immunodeficiency 80 with or without congenital cardiomyopathy


developmental and epileptic encephalopathy 6B


megacystis-microcolon-intestinal hypoperistalsis syndrome 3


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


immunodeficiency 82 with systemic inflammation


combined oxidative phosphorylation deficiency 52


spinocerebellar ataxia, autosomal recessive 29


encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10


inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


cardiomyopathy, familial hypertrophic, 28


spinocerebellar ataxia, autosomal recessive 30


spinocerebellar ataxia, autosomal recessive 31


mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


megacystis-microcolon-intestinal hypoperistalsis syndrome 5


encephalitis, acute, infection (viral)-induced, susceptibility to, 11


cutis laxa, autosomal recessive, type 2E


microcephaly 28, primary, autosomal recessive


myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


ciliary dyskinesia, primary, 47, and lissencephaly


facioscapulohumeral muscular dystrophy 3, digenic


facioscapulohumeral muscular dystrophy 4, digenic


short-rib thoracic dysplasia 21 without polydactyly


cholestasis, progressive familial intrahepatic, 6


neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2


combined oxidative phosphorylation deficiency 53


visceral neuropathy, familial, 2, autosomal recessive


congenital disorder of glycosylation, type 2v


Charcot-Marie-Tooth disease, axonal, type 2FF


epilepsy, idiopathic generalized, susceptibility to, 18


congenital disorder of glycosylation, type IIw


hearing loss, autosomal recessive 118, with cochlear aplasia


developmental and epileptic encephalopathy 97


muscular dystrophy, limb-girdle, autosomal recessive 27


Charcot-Marie-Tooth disease, axonal, Type 2HH


developmental and epileptic encephalopathy 98


developmental and epileptic encephalopathy 99


heterotaxy, visceral, 10, autosomal, with male infertility


heterotaxy, visceral, 11, autosomal, with male infertility


spastic paraplegia 84, autosomal recessive


spondylometaphyseal dysplasia, pagnamenta type


epidermolysis bullosa simplex 2A, generalized severe


immunodeficiency 91 and hyperinflammation


cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


cholestasis, progressive familial intrahepatic, 8


spastic paraplegia 85, autosomal recessive


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


agammaglobulinemia 9, autosomal recessive


epidermolysis bullosa simplex 2B, generalized intermediate


epidermolysis bullosa simplex 2C, localized


immunodeficiency 93 and hypertrophic cardiomyopathy


agammaglobulinemia 10, autosomal dominant


intellectual developmental disorder, autosomal recessive 73


hypogonadotropic hypogonadism 26 with or without anosmia


epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


central hypoventilation syndrome, congenital, 2, and autonomic dysfunction


central hypoventilation syndrome, congenital, 3


combined oxidative phosphorylation deficiency 54


Bryant-Li-Bhoj neurodevelopmental syndrome 1


Bryant-Li-Bhoj neurodevelopmental syndrome 2


dyskinesia with orofacial involvement, autosomal recessive


leukoencephalopathy, hereditary diffuse, with spheroids 2


gastrointestinal defects and immunodeficiency syndrome 2


spastic paraplegia 86, autosomal recessive


Charcot-Marie-Tooth disease, demyelinating, IIA 1I


immunodeficiency 94 with autoinflammation and dysmorphic facies


hypogonadotropic hypogonadism 27 without anosmia


Charcot-Marie-Tooth disease, demyelinating, IIA 1H


pulmonary fibrosis and/or bone marrow failure, telomere-related, 6


developmental and epileptic encephalopathy 100


mitochondrial DNA depletion syndrome 20 (mngie type)


Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


immunodeficiency 97 with autoinflammation


neutropenia, severe congenital, 9, autosomal dominant


developmental and epileptic encephalopathy 101


Tessadori-van Haaften neurodevelopmental syndrome 1


Tessadori-van Haaften neurodevelopmental syndrome 2


epidermolysis bullosa, junctional 2A, intermediate


epidermolysis bullosa, junctional 2B, severe


epidermolysis bullosa, junctional 3A, intermediate


epidermolysis bullosa, junctional 3B, severe


epidermolysis bullosa, junctional 4, intermediate


epidermolysis bullosa, junctional 5A, intermediate


congenital disorder of deglycosylation 2


intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly


immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias


cholestasis, progressive familial intrahepatic, 9


monosomy 7 myelodysplasia and leukemia syndrome 2


cholestasis, progressive familial intrahepatic, 10


immunodeficiency 101 (varicella zoster virus-specific)


cholestasis, progressive familial intrahepatic, 11


macrothrombocytopenia, isolated, 2, autosomal dominant


developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy


neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities


intellectual developmental disorder with speech delay and axonal peripheral neuropathy


neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


developmental and epileptic encephalopathy 89


neuronopathy, distal hereditary motor, type 5C


neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities


vertebral hypersegmentation and orofacial anomalies


frontotemporal dementia and/or amyotrophic lateral sclerosis 8


frontotemporal dementia and/or amyotrophic lateral sclerosis 5


mandibuloacral dysplasia progeroid syndrome


developmental and epileptic encephalopathy 102


amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


intellectual developmental disorder, autosomal dominant 66


leukoencephalopathy, progressive, infantile-onset, with or without deafness


intellectual developmental disorder with paroxysmal dyskinesia or seizures


mitochondrial complex 1 deficiency, nuclear type 36


intellectual disability, X-linked, syndromic, 35


intellectual disability, X-linked, syndromic, Houge type


intellectual disability, autosomal dominant 45


intellectual disability, autosomal dominant 46


intellectual disability, autosomal dominant 47


intellectual disability, autosomal dominant 48


intellectual disability, autosomal recessive 61


intellectual disability, autosomal dominant 50


intellectual disability, autosomal dominant 51


intellectual disability, autosomal dominant 52


intellectual disability, autosomal dominant 53


intellectual disability, autosomal dominant 54


intellectual disability, autosomal dominant 55, with seizures


intellectual disability, autosomal dominant 56


proteasome-associated autoinflammatory syndrome 5


microcephaly 26, primary, autosomal dominant


microcephaly 27, primary, autosomal dominant


neurodevelopmental disorder with or without early-onset generalized epilepsy


proteasome-associated autoinflammatory syndrome 4


intellectual developmental disorder, autosomal dominant 64


mitochondrial complex 2 deficiency, nuclear type 2


mitochondrial complex 2 deficiency, nuclear type 3


erythrokeratodermia variabilis et progressiva 7


neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities


short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2


developmental and epileptic encephalopathy 103


intellectual developmental disorder, autosomal dominant 67


neurofacioskeletal syndrome with or without renal agenesis


deafness, congenital, and adult-onset progressive leukoencephalopathy


intellectual developmental disorder, autosomal recessive 76


intellectual developmental disorder, autosomal dominant 68


immunodeficiency 106, susceptibility to viral infections


immunodeficiency 78 with autoimmunity and developmental delay


mitochondrial complex 2 deficiency, nuclear type 4


neuronopathy, distal hereditary motor, autosomal recessive 7


sulfide quinone oxidoreductase deficiency


blistering, acantholytic, of oral and laryngeal mucosa


vertebral, cardiac, tracheoesophageal, renal, and limb defects


developmental delay with dysmorphic facies and dental anomalies


short stature, oligodontia, dysmorphic facies, and motor delay


Tessadori-Van Haaften neurodevelopmental syndrome 3


neurodevelopmental disorder with or without autism or seizures


global developmental delay with speech and behavioral abnormalities


mitochondrial complex 1 deficiency, nuclear type 37


neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


Tessadori-Van Haaften neurodevelopmental syndrome 4


vitreoretinopathy with phalangeal epiphyseal dysplasia


neurodegeneration with ataxia and late-onset optic atrophy


spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


odontochondrodysplasia 2 with hearing loss and diabetes


neurodevelopmental disorder with dysmorphic facies and variable seizures


spastic paraplegia 87, autosomal recessive


developmental and epileptic encephalopathy 104


developmental and epileptic encephalopathy 105 with hypopituitarism


immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


intellectual developmental disorder, autosomal recessive 77


famililal cerebral cavernous malformations


cholestasis, progressive familial intrahepatic, 12


advance sleep phase syndrome, familial, 4


developmental and epileptic encephalopathy 106


ciliary dyskinesia, primary, 48, without situs inversus


developmental and epileptic encephalopathy 107


microcephaly 29, primary, autosomal recessive


Charcot-Marie-Tooth disease, axonal, IIa 2II


microcephaly, epilepsy, and diabetes syndrome 1


hennekam lymphangiectasia-lymphedema syndrome 3


ophthalmoplegia, external, with rib and vertebral anomalies


isolated growth hormone deficiency, type 4


intellectual developmental disorder with macrocephaly, seizures, and speech delay


isolated growth hormone deficiency, type 5


spondyloepimetaphyseal dysplasia, Krakow type


cardiac, facial, and digital anomalies with developmental delay


osteochondrodysplasia, brachydactyly, and overlapping malformed digits


cortical dysplasia, complex, with other brain malformations 9


microcephaly 24, primary, autosomal recessive


ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


diarrhea 10, protein-losing enteropathy type


intellectual developmental disorder and retinitis pigmentosa; IDDRP


myasthenic syndrome, congenital, 23, presynaptic


myasthenic syndrome, congenital, 24, presynaptic


developmental and epileptic encephalopathy, 68


inflammatory bowel disease, immunodeficiency, and encephalopathy


intellectual disability, autosomal recessive 66


mitochondrial complex 1 deficiency, nuclear type 2


vertebral anomalies and variable endocrine and T-cell dysfunction


mitochondrial complex 1 deficiency, nuclear type 3


mitochondrial complex 1 deficiency, nuclear type 4


mitochondrial complex 1 deficiency, nuclear type 5


mitochondrial complex 1 deficiency, nuclear type 6


mitochondrial complex 1 deficiency, nuclear type 7


mitochondrial complex 1 deficiency, nuclear type 8


epidermodysplasia verruciformis, susceptibility to, 2


mitochondrial complex 1 deficiency, nuclear type 9


mitochondrial complex 1 deficiency, nuclear type 10


mitochondrial complex 1 deficiency, nuclear type 11


mitochondrial complex 1 deficiency, nuclear type 13


mitochondrial complex 1 deficiency, nuclear type 14


mitochondrial complex 1 deficiency, nuclear type 15


mitochondrial complex 1 deficiency, nuclear type 16


mitochondrial complex 1 deficiency, nuclear type 17


mitochondrial complex 1 deficiency, nuclear type 18


mitochondrial complex 1 deficiency, nuclear type 19


mitochondrial complex 1 deficiency, nuclear type 21


mitochondrial complex 1 deficiency, nuclear type 22


mitochondrial complex 1 deficiency, nuclear type 23


mitochondrial complex 1 deficiency, nuclear type 24


mitochondrial complex 1 deficiency, nuclear type 25


mitochondrial complex 1 deficiency, nuclear type 26


mitochondrial complex 1 deficiency, nuclear type 27


mitochondrial complex 1 deficiency, nuclear type 28


mitochondrial complex 1 deficiency, nuclear type 29


mitochondrial complex 1 deficiency, nuclear type 31


mitochondrial complex 1 deficiency, nuclear type 32


mitochondrial complex 1 deficiency, nuclear type 33


arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development


epidermodysplasia verruciformis, susceptibility to, 3


congenital anomalies of kidney and urinary tract 3


mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


neurodegeneration, childhood-onset, with cerebellar atrophy


fibrosis, neurodegeneration, and cerebral angiomatosis


hyper-IgE recurrent infection syndrome 3, autosomal recessive


visual impairment and progressive phthisis bulbi


microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum


developmental and epileptic encephalopathy, 69


macrocephaly, acquired, with impaired intellectual development


spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


intellectual developmental disorder, autosomal recessive 67


developmental and epileptic encephalopathy, 70


intellectual developmental disorder, autosomal recessive 68


epidermodysplasia verruciformis, susceptibility to, 4


epidermodysplasia verruciformis, susceptibility to, 5


intellectual developmental disorder with cardiac defects and dysmorphic facies


basal ganglia calcification, idiopathic, 7, autosomal recessive


myasthenic syndrome, congenital, 25, presynaptic


lissencephaly 9 with complex brainstem malformation


developmental and epileptic encephalopathy, 71


combined oxidative phosphorylation deficiency 37


global developmental delay with or without impaired intellectual development


encephalopathy, progressive, early-onset, with episodic rhabdomyolysis


intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


intellectual developmental disorder with abnormal behavior, microcephaly, and short stature


polymicrogyria with or without vascular-type Ehlers-Danlos syndrome


microcephaly, growth deficiency, seizures, and brain malformations


microcephaly 25, primary, autosomal recessive


neurodevelopmental disorder with central and peripheral motor dysfunction


epilepsy, idiopathic generalized, susceptibility to, 15


short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


spinocerebellar ataxia, autosomal recessive 27


developmental and epileptic encephalopathy, 72


combined oxidative phosphorylation deficiency 38


facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome


intellectual developmental disorder, autosomal recessive 69


leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate


spondyloepiphyseal dysplasia, kondo-fu type


spondyloepimetaphyseal dysplasia with joint laxity, type 3


developmental and epileptic encephalopathy, 74


combined oxidative phosphorylation deficiency 39


Charcot-Marie-Tooth disease, axonal, type 2EE


intellectual developmental disorder, autosomal recessive 70


global developmental delay, progressive ataxia, and elevated glutamine


metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression


spastic paraplegia 80, autosomal dominant


gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy


neurodevelopmental disorder with impaired speech and hyperkinetic movements


encephalopathy, acute, infection-induced, susceptibility to, 9


developmental delay with variable intellectual impairment and behavioral abnormalities


developmental and epileptic encephalopathy, 75


neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia


intellectual developmental disorder with short stature and variable skeletal anomalies


developmental delay with or without dysmorphic facies and autism


developmental and epileptic encephalopathy, 76


intellectual developmental disorder with severe speech and ambulation defects


brain abnormalities, neurodegeneration, and dysosteosclerosis


cerebellar, ocular, craniofacial, and genital syndrome


neurodevelopmental disorder with seizures and speech and walking impairment


generalized epilepsy with febrile seizures plus, type 10


arthrogryposis multiplex congenita 3, myogenic type


neurodevelopmental disorder with microcephaly and structural brain anomalies


hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities


congenital hypotonia, epilepsy, developmental delay, and digital anomalies


immunodeficiency 63 with lymphoproliferation and autoimmunity


neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


holoprosencephaly 12 with or without pancreatic agenesis


cerebellar atrophy with seizures and variable developmental delay


intellectual developmental disorder, autosomal recessive 71


neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


hyper-IgE recurrent infection syndrome 4, autosomal recessive


ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features


mitochondrial DNA depletion syndrome 16 (hepatic type)


erythrokeratodermia variabilis et progressiva 6


ectodermal dysplasia 15, hypohidrotic/hair type


hypopigmentation, organomegaly, and delayed myelination and development


neurodevelopmental disorder with visual defects and brain anomalies


developmental and epileptic encephalopathy, 77


hepatitis, fulminant viral, susceptibility to


night blindness, congenital stationary, type1i


developmental and epileptic encephalopathy, 78


developmental and epileptic encephalopathy, 79


microangiopathy and leukoencephalopathy, pontine, autosomal dominant


neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


neurodevelopmental disorder with cerebellar hypoplasia and spasticity


hypothyroidism, congenital, nongoitrous, 7


neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


myopathy, congenital, progressive, with scoliosis


developmental and epileptic encephalopathy, 80


intellectual developmental disorder 60 with seizures


glycosylphosphatidylinositol biosynthesis defect 21


epilepsy, idiopathic generalized, susceptibility to, 16


spastic tetraplegia and axial hypotonia, progressive


neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities


intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies


lower urinary tract obstruction, congenital


spondyloepiphyseal dysplasia, nishimura type


neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


oculopharyngeal myopathy with leukoencephalopathy 1


immunodeficiency 65, susceptibility to viral infections


neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


intellectual developmental disorder with impaired language and dysmorphic facies


myopathy, congenital, with structured cores and z-line abnormalities


myopathy, distal, 6, adult-onset, autosomal dominant


neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


developmental and epileptic encephalopathy, 81


intellectual developmental disorder, autosomal recessive 72


hydrocephalus, congenital communicating, 1


intellectual developmental disorder with speech delay, autism, and dysmorphic facies


pulmonary fibrosis and/or bone marrow failure, telomere-related, 5


cortical dysplasia, complex, with other brain malformations 10


mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


intellectual developmental disorder with short stature and behavioral abnormalities


leukodystrophy, hypomyelinating, 19, transient infantile


retinitis pigmentosa 87 with choroidal involvement


short stature and microcephaly with genital anomalies


neurodevelopmental disorder with absent language and variable seizures


neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


developmental and epileptic encephalopathy, 82


intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures


ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies


spondyloepimetaphyseal dysplasia, Isidor-Toutain type


neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


neuromuscular disease and ocular or auditory anomalies with or without seizures


structural brain anomalies with impaired intellectual development and craniosynostosis


pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures


neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


developmental and epileptic encephalopathy, 83


intellectual developmental disorder with hypotonia and behavioral abnormalities


neutropenia, severe congenital, 8, autosomal dominant


neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum


spastic paraplegia 81, autosomal recessive


spastic paraplegia 82, autosomal recessive


mitochondrial complex 3 deficiency, nuclear type 10


mitochondrial complex 1 deficiency, nuclear type 34


congenital heart defects, multiple types, 7


developmental and epileptic encephalopathy, 84


juvenile arthritis due to defect in LACC1


neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation


spinocerebellar ataxia, autosomal recessive 28


respiratory papillomatosis, juvenile recurrent, congenital


triokinase and FMN cyclase deficiency syndrome


T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant


intellectual developmental disorder with poor growth and with or without seizures or ataxia


pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal


chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant


genitourinary and/or brain malformation syndrome


rhizomelic limb shortening with dysmorphic features


myopathy, congenital, with respiratory insufficiency and bone fractures


myopathy, congenital proximal, with minicore lesions


basal ganglia calcification, idiopathic, 8, autosomal recessive


intellectual developmental disorder, autosomal dominant 63, with macrocephaly


neurodevelopmental disorder with microcephaly and dysmorphic facies


neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


erythrokeratodermia variabilis et progressiva 1


erythrokeratodermia variabilis et progressiva 2


erythrokeratodermia variabilis et progressiva 3


erythrokeratodermia variabilis et progressiva 4


erythrokeratodermia variabilis et progressiva 5


spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


ichthyosis, congenital, autosomal recessive 14


ichthyosis, congenital, autosomal recessive 13


spinocerebellar ataxia, autosomal recessive 25


spinocerebellar ataxia, autosomal recessive 26


Charcot-Marie-Tooth disease, demyelinating, type 1G


hearing loss, autosomal dominant 34, with or without inflammation


multiple mitochondrial dysfunctions syndrome 5


developmental and epileptic encephalopathy, 52


developmental and epileptic encephalopathy, 53


developmental and epileptic encephalopathy, 54


developmental and epileptic encephalopathy, 55


developmental and epileptic encephalopathy, 56


developmental and epileptic encephalopathy, 57


developmental and epileptic encephalopathy, 58


developmental and epileptic encephalopathy, 59


developmental and epileptic encephalopathy, 60


developmental and epileptic encephalopathy, 61


developmental and epileptic encephalopathy, 62


developmental and epileptic encephalopathy, 63


developmental and epileptic encephalopathy, 64


developmental and epileptic encephalopathy, 65


short-rib thoracic dysplasia 19 with or without polydactyly


combined oxidative phosphorylation deficiency 45


combined oxidative phosphorylation deficiency 46


combined oxidative phosphorylation deficiency 47


cone-rod synaptic disorder syndrome, congenital nonprogressive


myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


immunodeficiency 72 with autoinflammation


immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


hemophagocytic lymphohistiocytosis, familial, 6


autoinflammation, immune dysregulation, and eosinophilia


intellectual developmental disorder with seizures and language delay